IRF6 rs2235375 single nucleotide polymorphism is associated with non-syndromic cleft palate only but not cleft lip with or without palate in south Indian population

Publication date: Available online 26 June 2017
Source:Brazilian Journal of Otorhinolaryngology
Author(s): Venkatesh Babu Gurramkonda, Altaf Hussain Syed, Jyotsna Murthy, Bhaskar V.K.S. Lakkakula
IntroductionTranscription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development.ObjectiveWe aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate (NSCL/P) in a south Indian population.Methods173 unrelated NSCL/P patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism (SNP) genotyping system. The association between interferon regulatory factor-6 (IRF6) intron-6 dbSNP208032210:g.G>C (rs2235375) SNP and NSCL/P risk was investigated by chi-square test.ResultsThere were significant differences in genotype or allele frequencies of rs2235375 SNP between controls and cases with NSCL/P. IRF6 rs2235375 variant was significantly associated with increased risk of NSCL/P in co-dominant, dominant (OR: 1.19; 95% CI 1.03–2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04–1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only (CPO) group (OR dominant: 4.33; 95% CI 1.44–12.97; p=0.005).ConclusionThese results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing NSCL/P.



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